MCID: SCC001
MIFTS: 56

Succinic Semialdehyde Dehydrogenase Deficiency

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Neuronal diseases

Aliases & Classifications for Succinic Semialdehyde Dehydrogenase Deficiency

MalaCards integrated aliases for Succinic Semialdehyde Dehydrogenase Deficiency:

Name: Succinic Semialdehyde Dehydrogenase Deficiency 53 12 72 23 49 24 55 71 13 14 69
4-Hydroxybutyric Aciduria 53 12 23 49 24 55 71
Gamma-Hydroxybutyric Aciduria 53 12 23 24 55 71
Ssadh Deficiency 53 23 49 24 55 71
Gaba Metabolic Defect 53 49 71
Ssadhd 53 71
Ssadh 12 72
Succinic Semialdehyde Dehydrogenase Deficiency 36
Succinate Semialdehyde Dehydrogenase Deficiency 71
Succinate-Semialdehyde Dehydrogenase Deficiency 28
Succinic Semialdehyde Dehydrogenase 13
Gamma-Hydroxybutyric Acidemia 24
Gamma-Hydroxybutyricaciduria 49
4-Hydroxybutyricaciduria 24

Characteristics:

Orphanet epidemiological data:

55
succinic semialdehyde dehydrogenase deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood,Infancy,Neonatal; Age of death: adult;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype
onset in infancy or early childhood


HPO:

31
succinic semialdehyde dehydrogenase deficiency:
Onset and clinical course phenotypic variability infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Succinic Semialdehyde Dehydrogenase Deficiency

Genetics Home Reference : 24 Succinic semialdehyde dehydrogenase deficiency is a disorder that can cause a variety of neurological problems. People with this condition typically have developmental delay, especially involving speech development; intellectual disability; and decreased muscle tone (hypotonia) soon after birth. About half of those affected experience seizures, difficulty coordinating movements (ataxia), decreased reflexes (hyporeflexia), and behavioral problems. The most common behavioral problems associated with this condition are sleep disturbances, hyperactivity, difficulty maintaining attention, and anxiety. Less frequently, affected individuals may have increased aggression, hallucinations, obsessive-compulsive disorder (OCD), and self-injurious behavior, including biting and head banging. People with this condition can also have problems controlling eye movements. Less common features of succinic semialdehyde dehydrogenase deficiency include uncontrollable movements of the limbs (choreoathetosis), involuntary tensing of the muscles (dystonia), muscle twitches (myoclonus), and a progressive worsening of ataxia.

MalaCards based summary : Succinic Semialdehyde Dehydrogenase Deficiency, also known as 4-hydroxybutyric aciduria, is related to aging and epilepsy, and has symptoms including ataxia, intellectual disability and muscular hypotonia. An important gene associated with Succinic Semialdehyde Dehydrogenase Deficiency is ALDH5A1 (Aldehyde Dehydrogenase 5 Family Member A1), and among its related pathways/superpathways are Alanine, aspartate and glutamate metabolism and Butanoate metabolism. The drugs (3-aminopropyl)(n-butyl)phosphinic acid and GABA Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and liver.

OMIM : 53 Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare autosomal recessive neurologic disorder in which an enzyme defect in the GABA degradation pathway causes a consecutive elevation of gamma-hydroxybutyric acid (GHB) and GABA. The clinical features include developmental delay, hypotonia, mental retardation, ataxia, seizures, hyperkinetic behavior, aggression, and sleep disturbances (summary by Reis et al., 2012). (271980)

UniProtKB/Swiss-Prot : 71 Succinic semialdehyde dehydrogenase deficiency: A rare inborn error of 4-aminobutyric acid (GABA) metabolism, which leads to accumulation of 4-hydroxybutyric acid in physiologic fluids of patients. The disease is clinically characterized by developmental delay, hypotonia, mental retardation, ataxia, seizures, hyperkinetic behavior, aggression, and sleep disturbances.

NIH Rare Diseases : 49 Succinic semialdehyde dehydrogenase (SSADH) deficiency is a disorder that can cause a variety of neurological and neuromuscular problems. The signs and symptoms can be extremely variable among affected individuals and may include mild to severe intellectual disability; developmental delay (especially involving speech); hypotonia; difficulty coordinating movements (ataxia); and/or seizures. Some affected individuals may also have decreased reflexes (hyporeflexia); nystagmus; hyperactivity; and/or behavioral problems. SSADH deficiency is caused by mutations in the ALDH5A1 gene and is inherited in an autosomal recessive manner. Management is generally symptomatic and typically focuses on treating seizures and neurobehavioral issues. Last updated: 9/25/2013

Disease Ontology : 12 A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid.

Wikipedia : 72 Succinic semialdehyde dehydrogenase deficiency (SSADHD), also known as 4-hydroxybutyric aciduria or... more...

GeneReviews: NBK1195

Related Diseases for Succinic Semialdehyde Dehydrogenase Deficiency

Diseases related to Succinic Semialdehyde Dehydrogenase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
# Related Disease Score Top Affiliating Genes
1 aging 10.2
2 epilepsy 10.2
3 hypotonia 10.2
4 gaba-transaminase deficiency 10.1 ABAT ALDH5A1
5 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 10.1
6 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 10.1
7 autism 10.1
8 canavan disease 10.1
9 body mass index quantitative trait locus 11 10.1
10 body mass index quantitative trait locus 9 10.1
11 body mass index quantitative trait locus 8 10.1
12 body mass index quantitative trait locus 4 10.1
13 body mass index quantitative trait locus 10 10.1
14 epilepsy, juvenile absence 1 10.1
15 body mass index quantitative trait locus 7 10.1
16 body mass index quantitative trait locus 12 10.1
17 body mass index quantitative trait locus 14 10.1
18 body mass index quantitative trait locus 18 10.1
19 alacrima, achalasia, and mental retardation syndrome 10.1
20 autism spectrum disorder 10.1
21 juvenile absence epilepsy 10.1
22 neuroleptic malignant syndrome 10.1
23 status epilepticus 10.1
24 sleep disorder 10.1
25 dystonia 10.1
26 streptococcal group a invasive disease 10.1
27 encephalopathy 10.1
28 williams-beuren syndrome 10.0
29 disease of mental health 9.5 ALDH2 GAD1
30 spastic cerebral palsy 9.4 ALDH3A2 GAD1
31 gamma-amino butyric acid metabolism disorder 7.8 ABAT AKR7A2 ALDH1B1 ALDH3A2 ALDH4A1 ALDH5A1

Graphical network of the top 20 diseases related to Succinic Semialdehyde Dehydrogenase Deficiency:



Diseases related to Succinic Semialdehyde Dehydrogenase Deficiency

Symptoms & Phenotypes for Succinic Semialdehyde Dehydrogenase Deficiency

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
ataxia
seizures
generalized tonic-clonic seizures
absence seizures
hyporeflexia
more
Head And Neck Eyes:
abnormal eye movements

Neurologic Behavioral Psychiatric Manifestations:
hallucinations
anxiety
hyperactivity
aggressiveness
autism, mild
more
Laboratory Abnormalities:
increased urinary excretion of 4-hydroxybutyric acid (ghb)
increased csf and plasma ghb
increased urinary excretion of gamma-aminobutyric acid (gaba)
increased csf and plasma gaba
decreased activity of succinic semialdehyde dehydrogenase (ssadh, aldh5a1), less than 5% of control values


Clinical features from OMIM:

271980

Human phenotypes related to Succinic Semialdehyde Dehydrogenase Deficiency:

55 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001251
2 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
3 muscular hypotonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001252
4 behavioral abnormality 55 31 frequent (33%) Frequent (79-30%) HP:0000708
5 global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001263
6 abnormality of metabolism/homeostasis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001939
7 generalized myoclonic seizures 55 31 frequent (33%) Frequent (79-30%) HP:0002123
8 generalized tonic-clonic seizures 55 31 frequent (33%) Frequent (79-30%) HP:0002069
9 status epilepticus 55 31 frequent (33%) Frequent (79-30%) HP:0002133
10 abnormality of eye movement 31 HP:0000496
11 eeg abnormality 31 HP:0002353
12 self-injurious behavior 31 HP:0100716
13 hallucinations 31 HP:0000738
14 delayed speech and language development 31 HP:0000750
15 autism 31 HP:0000717
16 anxiety 31 HP:0000739
17 psychosis 31 HP:0000709
18 absence seizures 31 HP:0002121
19 aggressive behavior 31 HP:0000718
20 hyporeflexia 31 HP:0001265
21 motor delay 31 HP:0001270
22 hyperactivity 31 HP:0000752
23 generalized hypotonia 31 HP:0001290
24 hyperkinesis 31 HP:0002487

UMLS symptoms related to Succinic Semialdehyde Dehydrogenase Deficiency:


myoclonic seizures, absence seizures, seizures, ataxia

Drugs & Therapeutics for Succinic Semialdehyde Dehydrogenase Deficiency

Drugs for Succinic Semialdehyde Dehydrogenase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 (3-aminopropyl)(n-butyl)phosphinic acid Phase 2
2 GABA Agents Phase 2
3 Neuroprotective Agents Phase 2
4 Neurotransmitter Agents Phase 2
5 Protective Agents Phase 2
6
Taurine Approved, Nutraceutical 107-35-7 1123

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase 2 Clinical Trial of SGS-742 Therapy in Succinic Semialdehyde Dehydrogenase Deficiency Active, not recruiting NCT02019667 Phase 2 SGS-742;Placebo
2 PET Imaging of GABA Receptors in Succinic Semialdehyde Dehydrogenase Deficiency Completed NCT00246870
3 Taurine Therapy for SSADH Deficiency Completed NCT01608178
4 Brain Excitability in Patients With Succinic Semialdehyde Dehydrogenase Deficiency Completed NCT00132366

Search NIH Clinical Center for Succinic Semialdehyde Dehydrogenase Deficiency

Genetic Tests for Succinic Semialdehyde Dehydrogenase Deficiency

Genetic tests related to Succinic Semialdehyde Dehydrogenase Deficiency:

# Genetic test Affiliating Genes
1 Succinate-Semialdehyde Dehydrogenase Deficiency 28 ALDH5A1

Anatomical Context for Succinic Semialdehyde Dehydrogenase Deficiency

MalaCards organs/tissues related to Succinic Semialdehyde Dehydrogenase Deficiency:

38
Eye, Brain, Liver, Globus Pallidus

Publications for Succinic Semialdehyde Dehydrogenase Deficiency

Articles related to Succinic Semialdehyde Dehydrogenase Deficiency:

(show top 50) (show all 81)
# Title Authors Year
1
In vitro modeling of experimental succinic semialdehyde dehydrogenase deficiency (SSADHD) using brain-derived neural stem cells. ( 29053743 )
2017
2
Gamma-Hydroxybutyrate (GHB) Content in Hair Samples Correlates Negatively with Age in Succinic Semialdehyde Dehydrogenase Deficiency. ( 28213850 )
2017
3
Targeted screening of succinic semialdehyde dehydrogenase deficiency (SSADHD) employing an enzymatic assay for I^-hydroxybutyric acid (GHB) in biofluids. ( 28649510 )
2017
4
[Identification of ALDH5A1 gene mutations in a Chinese family affected with succinic semialdehyde dehydrogenase deficiency]. ( 28186584 )
2017
5
Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency. ( 27268762 )
2016
6
A case of succinic semialdehyde dehydrogenase deficiency with status epilepticus and rapid regression. ( 27117035 )
2016
7
Biomarkers in a Taurine Trial for Succinic Semialdehyde Dehydrogenase Deficiency. ( 27338723 )
2016
8
Succinic Semialdehyde Dehydrogenase Deficiency Presenting as Autism Spectrum Disorder. ( 26806207 )
2016
9
Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism. ( 27311541 )
2016
10
Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism. ( 27686230 )
2016
11
Eye Findings on Vigabatrin and Taurine Treatment in Two Patients with Succinic Semialdehyde Dehydrogenase Deficiency. ( 27104484 )
2016
12
Psychomotor delay, hypotonia, and behavioural disorders: A case of succinic semialdehyde dehydrogenase deficiency. ( 26964512 )
2016
13
Succinic semialdehyde dehydrogenase deficiency of four Chinese patients and prenatal diagnosis for three fetuses. ( 26220405 )
2015
14
Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood. ( 26268900 )
2015
15
A case of acute onset succinic semialdehyde dehydrogenase deficiency: neuroimaging findings and literature review. ( 26499347 )
2015
16
A Novel Mutation of ALDH5A1 Gene Associated With Succinic Semialdehyde Dehydrogenase Deficiency. ( 25246302 )
2014
17
Succinic Semialdehyde Dehydrogenase Deficiency in a Chinese Boy: A Novel ALDH5A1 Mutation With Severe Phenotype. ( 25122112 )
2014
18
Evidence of redox imbalance in a patient with succinic semialdehyde dehydrogenase deficiency. ( 27896081 )
2014
19
Taurine trial in succinic semialdehyde dehydrogenase deficiency and elevated CNS GABA. ( 24523482 )
2014
20
Thirty years beyond discovery--clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism. ( 22739941 )
2013
21
Therapeutic efficacy of magnesium valproate in succinic semialdehyde dehydrogenase deficiency. ( 23430529 )
2013
22
[Analysis of ALDH5A1 gene mutation in a Chinese Han family with succinic semialdehyde dehydrogenase deficiency]. ( 23926001 )
2013
23
[Succinic semialdehyde dehydrogenase deficiency: an inheritable neurometabolic disease]. ( 23516105 )
2013
24
A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family. ( 23825041 )
2013
25
A boy with a severe phenotype of succinic semialdehyde dehydrogenase deficiency. ( 21612881 )
2012
26
Efficacy of vigabatrin intervention in a mild phenotypic expression of succinic semialdehyde dehydrogenase deficiency. ( 23430864 )
2012
27
A novel ALDH5A1 mutation in a patient with succinic semialdehyde dehydrogenase deficiency. ( 22437753 )
2012
28
Epilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism. ( 21664777 )
2011
29
Neuropathology in succinic semialdehyde dehydrogenase deficiency. ( 20304328 )
2010
30
Head bobbing due to succinic semialdehyde dehydrogenase deficiency. ( 20548048 )
2010
31
Sleep disorders in succinic semialdehyde dehydrogenase deficiency: a family report. ( 19896403 )
2010
32
Cerebellar atrophy in human and murine succinic semialdehyde dehydrogenase deficiency. ( 20445195 )
2010
33
[Succinic semialdehyde dehydrogenase deficiency: decrease in 4-OH-butyric acid levels with low doses of vigabatrin]. ( 20018576 )
2010
34
Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men. ( 19172412 )
2009
35
Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency. ( 19667317 )
2009
36
Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patients. ( 18622364 )
2008
37
'Succinic semialdehyde dehydrogenase deficiency: phenotype evolution in an adolescent patient at 20-year follow-up'. ( 18811705 )
2008
38
Circadian distribution of generalized tonic-clonic seizures associated with murine succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism. ( 18514581 )
2008
39
Evidence for oxidative stress in tissues derived from succinate semialdehyde dehydrogenase-deficient mice. ( 17885820 )
2007
40
Enzymatic and metabolic evidence for a region specific mitochondrial dysfunction in brains of murine succinic semialdehyde dehydrogenase deficiency (Aldh5a1-/- mice). ( 17303287 )
2007
41
Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency. ( 17438226 )
2007
42
Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity. ( 16545979 )
2006
43
Succinic semialdehyde dehydrogenase deficiency: GABAB receptor-mediated function. ( 16647690 )
2006
44
Succinic semialdehyde dehydrogenase deficiency: clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation. ( 16542398 )
2006
45
Absence seizures in succinic semialdehyde dehydrogenase deficient mice: a model of juvenile absence epilepsy. ( 15582027 )
2004
46
Liver-directed adenoviral gene transfer in murine succinate semialdehyde dehydrogenase deficiency. ( 15093183 )
2004
47
Neurodevelopmental pattern of succinic semialdehyde dehydrogenase deficiency (gamma-hydroxybutyric aciduria). ( 15287248 )
2004
48
Proton MR spectroscopy in succinic semialdehyde dehydrogenase deficiency. ( 15037717 )
2004
49
The molecular basis of succinic semialdehyde dehydrogenase deficiency in one family. ( 15059623 )
2004
50
Mental retardation and hypotonia seen in the knock out mouse for Canavan disease is not due to succinate semialdehyde dehydrogenase deficiency. ( 15016427 )
2004

Variations for Succinic Semialdehyde Dehydrogenase Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Succinic Semialdehyde Dehydrogenase Deficiency:

71 (show all 12)
# Symbol AA change Variation ID SNP ID
1 ALDH5A1 p.Cys93Phe VAR_026199 rs765561257
2 ALDH5A1 p.Gly176Arg VAR_026200 rs72552281
3 ALDH5A1 p.Cys223Tyr VAR_026201 rs72552282
4 ALDH5A1 p.Thr233Met VAR_026202
5 ALDH5A1 p.Asn255Ser VAR_026203 rs145087265
6 ALDH5A1 p.Gly268Glu VAR_026204 rs375628463
7 ALDH5A1 p.Asn335Lys VAR_026205 rs72552283
8 ALDH5A1 p.Pro382Leu VAR_026206
9 ALDH5A1 p.Pro382Gln VAR_026207
10 ALDH5A1 p.Gly409Asp VAR_026208 rs118203984
11 ALDH5A1 p.Val487Glu VAR_026209
12 ALDH5A1 p.Gly533Arg VAR_026210 rs72552284

ClinVar genetic disease variations for Succinic Semialdehyde Dehydrogenase Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ALDH5A1 ALDH5A1, IVS9, G-T, +1 single nucleotide variant Pathogenic
2 ALDH5A1 ALDH5A1, IVS5, G-A, +1 single nucleotide variant Pathogenic
3 ALDH5A1 NM_001080.3(ALDH5A1): c.612G> A (p.Trp204Ter) single nucleotide variant Pathogenic rs118203982 GRCh37 Chromosome 6, 24505099: 24505099
4 ALDH5A1 NM_170740.1(ALDH5A1): c.1273C> T (p.Arg425Ter) single nucleotide variant Pathogenic rs118203983 GRCh37 Chromosome 6, 24528285: 24528285
5 ALDH5A1 NM_001080.3(ALDH5A1): c.1226G> A (p.Gly409Asp) single nucleotide variant Pathogenic rs118203984 GRCh37 Chromosome 6, 24528277: 24528277
6 ALDH5A1 NG_008161.1: g.31299_33753del2455 deletion Pathogenic GRCh37 Chromosome 6, 24521495: 24523949
7 ALDH5A1 NM_170740.1(ALDH5A1): c.1382+1_1382+3delinsTT indel Pathogenic rs875989801 GRCh37 Chromosome 6, 24528395: 24528397
8 ALDH5A1 NM_001080.3(ALDH5A1): c.803G> A (p.Gly268Glu) single nucleotide variant Pathogenic/Likely pathogenic rs375628463 GRCh37 Chromosome 6, 24515471: 24515471
9 ALDH5A1 NM_001080.3(ALDH5A1): c.610-2A> G single nucleotide variant Pathogenic GRCh38 Chromosome 6, 24504867: 24504867

Expression for Succinic Semialdehyde Dehydrogenase Deficiency

Search GEO for disease gene expression data for Succinic Semialdehyde Dehydrogenase Deficiency.

Pathways for Succinic Semialdehyde Dehydrogenase Deficiency

Pathways related to Succinic Semialdehyde Dehydrogenase Deficiency according to KEGG:

36
# Name Kegg Source Accession
1 Alanine, aspartate and glutamate metabolism hsa00250
2 Butanoate metabolism hsa00650

Pathways related to Succinic Semialdehyde Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

(show all 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.61 ABAT AKR7A2 ALDH1B1 ALDH2 ALDH3A2 ALDH4A1
2
Show member pathways
12.75 ABAT ALDH2 ALDH5A1 GAD1
3
Show member pathways
12.36 ALDH1B1 ALDH2 ALDH3A2
4
Show member pathways
12.11 ALDH1B1 ALDH2 ALDH3A2
5
Show member pathways
11.98 ALDH1B1 ALDH2 ALDH3A2
6
Show member pathways
11.94 ABAT ALDH5A1 GAD1
7
Show member pathways
11.63 ALDH1B1 ALDH2 ALDH3A2
8 11.44 ALDH1B1 ALDH2 ALDH3A2
9
Show member pathways
11.43 ABAT ALDH1B1 ALDH2 ALDH3A2 ALDH6A1
10 11.4 ALDH1B1 ALDH2 ALDH3A2
11
Show member pathways
11.31 ALDH1B1 ALDH2 ALDH3A2 ALDH4A1
12
Show member pathways
11.23 ALDH1B1 ALDH2 ALDH3A2
13
Show member pathways
11.16 ABAT ALDH5A1 GAD1
14 11.08 ABAT ALDH6A1
15
Show member pathways
11.08 ALDH1B1 ALDH2 ALDH3A2
16
Show member pathways
11.06 ALDH2 ALDH5A1
17 11 ABAT ALDH4A1 ALDH5A1 GAD1
18
Show member pathways
10.89 ABAT ALDH5A1
19
Show member pathways
10.78 ABAT GAD1
20
Show member pathways
10.63 ABAT ALDH1B1 ALDH2 ALDH3A2 ALDH6A1 GAD1
21
Show member pathways
10.62 ABAT GAD1

GO Terms for Succinic Semialdehyde Dehydrogenase Deficiency

Cellular components related to Succinic Semialdehyde Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.56 ABAT ALDH1B1 ALDH2 ALDH3A2 ALDH4A1 ALDH5A1
2 mitochondrial matrix GO:0005759 9.1 ABAT ALDH1B1 ALDH2 ALDH4A1 ALDH5A1 ALDH6A1

Biological processes related to Succinic Semialdehyde Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.69 AKR7A2 ALDH1B1 ALDH2
2 electron transport chain GO:0022900 9.58 AKR7A2 ALDH2 ALDH4A1
3 ethanol oxidation GO:0006069 9.49 ALDH1B1 ALDH2
4 ethanol catabolic process GO:0006068 9.48 ALDH1B1 ALDH2
5 cellular aldehyde metabolic process GO:0006081 9.46 AKR7A2 ALDH3A2
6 neurotransmitter catabolic process GO:0042135 9.43 ABAT ALDH5A1
7 metabolic process GO:0008152 9.43 ALDH1B1 ALDH2 ALDH3A2 ALDH4A1 ALDH5A1 ALDH6A1
8 gamma-aminobutyric acid metabolic process GO:0009448 9.37 ABAT ALDH5A1
9 gamma-aminobutyric acid biosynthetic process GO:0009449 9.32 ABAT GAD1
10 glutamate decarboxylation to succinate GO:0006540 9.26 ALDH5A1 GAD1
11 oxidation-reduction process GO:0055114 9.17 AKR7A2 ALDH1B1 ALDH2 ALDH3A2 ALDH4A1 ALDH5A1
12 gamma-aminobutyric acid catabolic process GO:0009450 9.16 ABAT ALDH5A1

Molecular functions related to Succinic Semialdehyde Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 electron transfer activity GO:0009055 9.5 AKR7A2 ALDH2 ALDH4A1
2 oxidoreductase activity GO:0016491 9.5 AKR7A2 ALDH1B1 ALDH2 ALDH3A2 ALDH4A1 ALDH5A1
3 pyridoxal phosphate binding GO:0030170 9.37 ABAT GAD1
4 NAD binding GO:0051287 9.33 ALDH1B1 ALDH2 ALDH5A1
5 aldehyde dehydrogenase [NAD(P)+] activity GO:0004030 9.26 ALDH2 ALDH3A2
6 aldehyde dehydrogenase (NAD) activity GO:0004029 8.92 ALDH1B1 ALDH2 ALDH3A2 ALDH4A1

Sources for Succinic Semialdehyde Dehydrogenase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
30 HMDB
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32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
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41 MeSH
42 MESH via Orphanet
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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